Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Strabismus | HP_0000486 | [A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.] |
| Familial dyskinesia and facial myokymia | Orphanet_324588 | |
| Rare paroxysmal movement disorder | Orphanet_306768 | |
| Visual loss | HP_0000572 | [Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).] |
| obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Orphanet_324585 | |
| Retinal hemorrhage | HP_0000573 | [Hemorrhage occurring within the retina.] |
| foregut primordium | FBbt_00005535 | |
| gnathal primordium | FBbt_00005534 | |
| chromosome 3q13.31 deletion syndrome | MONDO_0014185 | [3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.] |
| bicuculline | CHEBI_3092 | [Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species.] |
| toxin | CHEBI_27026 | [Poisonous substance produced by a biological organism such as a microbe, animal or plant.] |
| epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | MONDO_0014180 | |
| epidermolysis bullosa simplex | MONDO_0017610 | [Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.] |
| bicalutamide | CHEBI_3090 | [An amide that has formula C18H14F4N2O4S.] |
| PancTUI | EFO_0002715 | |
| head mesoderm anlage | FBbt_00005548 | |
| obsolete_hyperinsulinism due to HNF1A deficiency | Orphanet_324575 | |
| Panc89 | EFO_0002714 | |
| SH-SY5Y | EFO_0002717 | |
| Pt45P1 | EFO_0002716 |